Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225904035T>G , CM000663.2:g.225904035T>G | GRCh38 |
| NC_000001.10:g.226091735T>G , CM000663.1:g.226091735T>G | GRCh37 |
| NC_000001.9:g.224158358T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432920.2:c.576-16003A>C | ENSP00000414068.2:n.576-16003A>C | |
| ENST00000492457.1:c.-57+7084A>C | ENSP00000479837.1:n.-57+7084A>C |